Publications by authors named "S Barresi"

Fibroblastic/myofibroblastic tumors encompass a wide spectrum of lesions. Among them, plexiform myofibroblastoma (PM) represents a rare and distinctive entity recently described as mostly occurring in children and with a favorable prognosis. Histologically, PM shows SMA, CD34, and desmin expression in most cases, while it is negative for β-catenin and S100.

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Soft tissue myoepithelial tumors (METs) are diagnostically challenging tumors that require careful histologic and immunohistochemical characterization for accurate classification. Nearly half of METs show recurrent EWSR1 or FUS gene rearrangements with a diverse set of fusion partners. The diversity of fusion partners and lack of known driver abnormalities in many cases raises the question of whether METs represent a uniformly distinct tumor entity.

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Over the past decade, advancements in molecular biology have contributed to changes in the diagnostic classification of Spitz neoplasms, including Spitz nevi, atypical Spitz tumors, and Spitz melanomas. The recent World Health Organization classification of skin tumors identifies fusion kinases, including NTRK1, NTRK2, and NTRK3, as critical drivers of these lesions. New fusion genes have continued to expand the spectrum of known molecular alterations, particularly within the category of Spitz NTRK-rearranged lesions.

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Article Synopsis
  • Approximately 10% of pediatric cancers are linked to cancer predisposition syndromes, with specific genes like DICER1 playing crucial roles in certain tumors, while the impact of BRCA1/2 remains uncertain.
  • This study presents two cases of young cousins who both have a germline BRCA2 variant and developed tumors featuring somatic DICER1 mutations, indicating a possible connection between these genetic factors.
  • Further research is needed to understand how BRCA1/2 and DICER1 variants interact and the implications this has for pediatric cancer risk and treatment options.
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